Varaico: Literature-Extracted Genetic Variants

DEPDC5

362 papers

RefSeq Summary

This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the ...

Pfam Domains

IML1_Naa 4–89UCSCIML1 N-terminal double psi beta barrel domain

IML1aa 100–382UCSCVacuolar membrane-associated protein Iml1, N-terminal domain

DEPaa 1190–1260UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)

DEPDC5_CTDaa 1278–1585UCSCDEPDC5 protein C-terminal region

Gene Aliases

HGNC Name

DEP domain containing 5, GATOR1 subcomplex subunit

HGNC Alias Symbols

KIAA0645; DEP.5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 714 variants

18 papers

NM_001242896.3

p.R239*

c.715C>T

18 papers

NM_001242896.3

p.R422*

c.1264C>T

14 papers

NM_001242896.3

p.Y7*

c.21C>G

14 papers

NM_001242896.3

p.R843*

c.2527C>T

14 papers

NM_001242896.3

p.R1332*

c.3994C>T

13 papers

NM_001242896.3

p.R487*

c.1459C>T

13 papers

NM_001242896.3

p.R587*

c.1759C>T

12 papers

NM_001242896.3

p.R243*

c.727C>T

12 papers

NM_001242896.3

p.R286*

c.856C>T

12 papers

NM_001242896.3

p.A452V

c.1355C>T

12 papers

NM_001242896.3

p.R555*

c.1663C>T

12 papers

NM_001242896.3

p.S1104L

c.3311C>T